LOCUS       NM_001127222            8647 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens calcium voltage-gated channel subunit alpha1 A
            (CACNA1A), transcript variant 4, mRNA.
ACCESSION   NM_001127222
VERSION     NM_001127222.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8647)
  AUTHORS   Indelicato,E., Nachbauer,W., Amprosi,M.S., Maier,S.,
            Unterberger,I., Delazer,M., Kaltseis,K., Kiechl,S., Broessner,G.,
            Baumann,M. and Boesch,S.
  TITLE     Natural history of non-polyglutamine CACNA1A disease in Austria
  JOURNAL   J Neurol 271 (10), 6618-6627 (2024)
   PUBMED   39110218
  REMARK    GeneRIF: Natural history of non-polyglutamine CACNA1A disease in
            Austria.
REFERENCE   2  (bases 1 to 8647)
  AUTHORS   Bhattacharjee,S. and Paramanandam,V.
  TITLE     Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel
            Pathogenic Variant of the CACNA1A Gene
  JOURNAL   Neurol India 71 (6), 1307-1308 (2023)
   PUBMED   38174495
  REMARK    GeneRIF: Adult-onset Migraine and Very Late Onset Ataxia Due to a
            Novel Pathogenic Variant of the CACNA1A Gene.
REFERENCE   3  (bases 1 to 8647)
  AUTHORS   Yin,Y., Wu,S., Niu,L. and Huang,S.
  TITLE     High-Throughput Sequencing Data Reveal an Antiangiogenic Role of
            HNF4A-Mediated CACNA1A/VEGFA Axis in Proliferative Diabetic
            Retinopathy
  JOURNAL   Invest Ophthalmol Vis Sci 64 (7), 32 (2023)
   PUBMED   37342032
  REMARK    GeneRIF: High-Throughput Sequencing Data Reveal an Antiangiogenic
            Role of HNF4A-Mediated CACNA1A/VEGFA Axis in Proliferative Diabetic
            Retinopathy.
REFERENCE   4  (bases 1 to 8647)
  AUTHORS   Barry,E.L., Viglione,M.P., Kim,Y.I. and Froehner,S.C.
  TITLE     Expression and antibody inhibition of P-type calcium channels in
            human small-cell lung carcinoma cells
  JOURNAL   J Neurosci 15 (1 Pt 1), 274-283 (1995)
   PUBMED   7823133
REFERENCE   5  (bases 1 to 8647)
  AUTHORS   Joutel,A., Bousser,M.G., Biousse,V., Labauge,P., Chabriat,H.,
            Nibbio,A., Maciazek,J., Meyer,B., Bach,M.A., Weissenbach,J. et al.
  TITLE     A gene for familial hemiplegic migraine maps to chromosome 19
  JOURNAL   Nat Genet 5 (1), 40-45 (1993)
   PUBMED   8220421
REFERENCE   6  (bases 1 to 8647)
  AUTHORS   Spacey,S.
  TITLE     Episodic Ataxia Type 2 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301674
REFERENCE   7  (bases 1 to 8647)
  AUTHORS   Jen,J.C.
  TITLE     Familial Hemiplegic Migraine
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301562
REFERENCE   8  (bases 1 to 8647)
  AUTHORS   Casey,H.L. and Gomez,C.M.
  TITLE     Spinocerebellar Ataxia Type 6
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301319
REFERENCE   9  (bases 1 to 8647)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
REFERENCE   10 (bases 1 to 8647)
  AUTHORS   Perez-Reyes,E., Castellano,A., Kim,H.S., Bertrand,P., Baggstrom,E.,
            Lacerda,A.E., Wei,X.Y. and Birnbaumer,L.
  TITLE     Cloning and expression of a cardiac/brain beta subunit of the
            L-type calcium channel
  JOURNAL   J Biol Chem 267 (3), 1792-1797 (1992)
   PUBMED   1370480
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008540.6, AF004883.1,
            AB035727.2, AC022436.6, AC124224.1, AC026805.5 and AC011446.6.
            
            On Jun 2, 2019 this sequence version replaced NM_001127222.1.
            
            Summary: Voltage-dependent calcium channels mediate the entry of
            calcium ions into excitable cells, and are also involved in a
            variety of calcium-dependent processes, including muscle
            contraction, hormone or neurotransmitter release, and gene
            expression. Calcium channels are multisubunit complexes composed of
            alpha-1, beta, alpha-2/delta, and gamma subunits. The channel
            activity is directed by the pore-forming alpha-1 subunit, whereas,
            the others act as auxiliary subunits regulating this activity. The
            distinctive properties of the calcium channel types are related
            primarily to the expression of a variety of alpha-1 isoforms,
            alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A
            subunit, which is predominantly expressed in neuronal tissue.
            Mutations in this gene are associated with 2 neurologic disorders,
            familial hemiplegic migraine and episodic ataxia 2. This gene also
            exhibits polymorphic variation due to (CAG)n-repeats. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. In one set of transcript variants, the (CAG)n-repeats
            occur in the 3' UTR, and are not associated with any disease. But
            in another set of variants, an insertion extends the coding region
            to include the (CAG)n-repeats which encode a polyglutamine tract.
            Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in
            the coding region is associated with spinocerebellar ataxia 6.
            [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (4) uses two alternate in-frame
            splice sites and lacks an alternate in-frame exon, compared to
            variant 2. The resulting isoform (4) differs at three internal
            regions, compared to isoform 2, and includes the polyglutamine
            tract near the C-terminus.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB035727.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360228.11/ ENSP00000353362.5
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AC008540.6         93419-93437         c
            20-255              AF004883.1         1-236
            256-1130            AB035727.2         1-875
            1131-1131           AC022436.6         32456-32456         c
            1132-1436           AB035727.2         877-1181
            1437-1437           AC124224.1         34388-34388         c
            1438-2345           AB035727.2         1183-2090
            2346-2346           AC026805.5         21865-21865         c
            2347-2938           AB035727.2         2092-2683
            2939-3144           AC026805.5         16829-17034         c
            3145-3564           AB035727.2         2890-3309
            3565-3565           AC026805.5         4831-4831           c
            3566-7776           AB035727.2         3311-7521
            7777-8647           AC011446.6         77399-78269         c
FEATURES             Location/Qualifiers
     source          1..8647
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     gene            1..8647
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /note="calcium voltage-gated channel subunit alpha1 A"
                     /db_xref="GeneID:773"
                     /db_xref="HGNC:HGNC:1388"
                     /db_xref="MIM:601011"
     exon            1..548
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     CDS             256..7776
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /note="isoform 4 is encoded by transcript variant 4; brain
                     calcium channel 1; voltage-dependent P/Q-type calcium
                     channel subunit alpha-1A; calcium channel, L type, alpha-1
                     polypeptide; fetal brain Ca2+ voltage-gated channel
                     alpha1A pore-forming subunit; brain calcium channel I;
                     voltage-gated calcium channel subunit alpha Cav2.1;
                     calcium channel, voltage-dependent, P/Q type, alpha 1A
                     subunit"
                     /codon_start=1
                     /product="voltage-dependent P/Q-type calcium channel
                     subunit alpha-1A isoform 4"
                     /protein_id="NP_001120694.1"
                     /db_xref="CCDS:CCDS45998.1"
                     /db_xref="GeneID:773"
                     /db_xref="HGNC:HGNC:1388"
                     /db_xref="MIM:601011"
                     /translation="MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGA
                     QRMYKQSMAQRARTMALYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEY
                     MILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFH
                     KGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKS
                     IMKAMIPLLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEE
                     PARTCPNGTKCQPYWEGPNNGITQFDNILFAVLTVFQCITMEGWTDLLYNSNDASGNT
                     WNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGY
                     MEWISKAEEVILAEDETDGEQRHPFDALRRTTIKKSKTDLLNPEEAEDQLADIASVGS
                     PFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVHY
                     NQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVI
                     WAVIKPGTSFGISVLRALRLLRIFKVTKYWASLRNLVVSLLNSMKSIISLLFLLFLFI
                     VVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYDGIKSQGG
                     VQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQ
                     KAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEMD
                     PDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRAAEPTVDQRLGQQRAED
                     FLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRESDHHAREGSLEQPG
                     FWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDK
                     AERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRK
                     ENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHA
                     GLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTPENSLIV
                     TNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEEKKEE
                     EEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAA
                     EDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVV
                     SGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFN
                     ILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWK
                     KYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYF
                     VVFPFFFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQ
                     SFQYRMWQFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSL
                     ECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLI
                     KLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSD
                     EDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNE
                     FAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAA
                     WGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALI
                     RTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAA
                     MMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGA
                     LMAHESGLKESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDG
                     YSDSEHYLPMEGQGRAASMPRLPAENQRRRGRPRGNNLSTISDTSPMKRSASVLGPKA
                     RRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDTGLGTDLSMTTQSGDL
                     PSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSRS
                     PSEGREHMAHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPSTPRPHVSYSPVIRKA
                     GGSGPPQQQQQQQQQQQQQAVARPGRAATSGPRRYPGPTAEPLAGDRPPTGGHSSGRS
                     PRMERRVPGPARSESPRACRHGGARWPASGPHVSEGPPGPRHHGYYRGSDYDEADGPG
                     SGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGPACASPSRHGRRLPNGYYPAH
                     GLARPRGPGSRKGLHEPYSESDDDWC"
     exon            549..654
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            655..794
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            795..886
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            887..1039
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..1233
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..1337
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1338..1453
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1454..1510
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1511..1600
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1601..1810
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1811..1923
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            1924..2036
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            2037..2168
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            2169..2241
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            2242..2359
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            2360..2427
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            2428..2534
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            2535..3344
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            3345..3808
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            3809..3947
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            3948..4077
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            4078..4137
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            4138..4244
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            4245..4344
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            4345..4505
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            4506..4643
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            4644..4845
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            4846..5010
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            5011..5121
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            5122..5205
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            5206..5322
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            5323..5388
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            5389..5504
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            5505..5655
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            5656..5783
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            5784..5880
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            5881..5986
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            5987..6094
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            6095..6195
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            6196..6305
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            6306..6444
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            6445..6558
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            6559..6594
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            6595..6781
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            6782..7035
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     exon            7036..8647
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      8626..8631
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /note="hexamer: AATAAA"
     polyA_site      8647
                     /gene="CACNA1A"
                     /gene_synonym="APCA; BI; CACNL1A4; CAV2.1; DEE42; EA2;
                     EIEE42; FHM; HPCA; MHP; MHP1; SCA6"
                     /note="major polyA site"
ORIGIN      
        1 ctccggggtc agccaggaag atgtcccgag ctgctatccc cggctcggcc cgggcagccg
       61 ccttctgagc ccccgacccg aggcgccgag ccgccgccgc ccgatgggct gggccgtgga
      121 gcgtctccgc agtcgtagct ccagccgccg cgctcccagc cccggcagcc tcagcatcag
      181 cggcggcggc ggcggcggcg gcgtcttccg catcgttcgc cgcagcgtaa cccggagccc
      241 tttgctcttt gcagaatggc ccgcttcgga gacgagatgc cggcccgcta cgggggagga
      301 ggctccgggg cagccgccgg ggtggtcgtg ggcagcggag gcgggcgagg agccgggggc
      361 agccggcagg gcgggcagcc cggggcgcaa aggatgtaca agcagtcaat ggcgcagaga
      421 gcgcggacca tggcactcta caaccccatc cccgtccgac agaactgcct cacggttaac
      481 cggtctctct tcctcttcag cgaagacaac gtggtgagaa aatacgccaa aaagatcacc
      541 gaatggcctc cctttgaata tatgatttta gccaccatca tagcgaattg catcgtcctc
      601 gcactggagc agcatctgcc tgatgatgac aagaccccga tgtctgaacg gctggatgac
      661 acagaaccat acttcattgg aattttttgt ttcgaggctg gaattaaaat cattgccctt
      721 gggtttgcct tccacaaagg ctcctacttg aggaatggct ggaatgtcat ggactttgtg
      781 gtggtgctaa cgggcatctt ggcgacagtt gggacggagt ttgacctacg gacgctgagg
      841 gcagttcgag tgctgcggcc gctcaagctg gtgtctggaa tcccaagttt acaagtcgtc
      901 ctgaagtcga tcatgaaggc gatgatccct ttgctgcaga tcggcctcct cctatttttt
      961 gcaatcctta tttttgcaat catagggtta gaattttata tgggaaaatt tcataccacc
     1021 tgctttgaag aggggacaga tgacattcag ggtgagtctc cggctccatg tgggacagaa
     1081 gagcccgccc gcacctgccc caatgggacc aaatgtcagc cctactggga agggcccaac
     1141 aacgggatca ctcagttcga caacatcctg tttgcagtgc tgactgtttt ccagtgcata
     1201 accatggaag ggtggactga tctcctctac aatagcaacg atgcctcagg gaacacttgg
     1261 aactggttgt acttcatccc cctcatcatc atcggctcct tttttatgct gaaccttgtg
     1321 ctgggtgtgc tgtcagggga gtttgccaaa gaaagggaac gggtggagaa ccggcgggct
     1381 tttctgaagc tgaggcggca acaacagatt gaacgtgagc tcaatgggta catggagtgg
     1441 atctcaaaag cagaagaggt gatcctcgcc gaggatgaaa ctgacgggga gcagaggcat
     1501 ccctttgatg ctctgcggag aaccaccata aagaaaagca agacagattt gctcaacccc
     1561 gaagaggctg aggatcagct ggctgatata gcctctgtgg gttctccctt cgcccgagcc
     1621 agcattaaaa gtgccaagct ggagaactcg accttttttc acaaaaagga gaggaggatg
     1681 cgtttctaca tccgccgcat ggtcaaaact caggccttct actggactgt actcagtttg
     1741 gtagctctca acacgctgtg tgttgctatt gttcactaca accagcccga gtggctctcc
     1801 gacttccttt actatgcaga attcattttc ttaggactct ttatgtccga aatgtttata
     1861 aaaatgtacg ggcttgggac gcggccttac ttccactctt ccttcaactg ctttgactgt
     1921 ggggttatca ttgggagcat cttcgaggtc atctgggctg tcataaaacc tggcacatcc
     1981 tttggaatca gcgtgttacg agccctcagg ttattgcgta ttttcaaagt cacaaagtac
     2041 tgggcatctc tcagaaacct ggtcgtctct ctcctcaact ccatgaagtc catcatcagc
     2101 ctgttgtttc tccttttcct gttcattgtc gtcttcgccc ttttgggaat gcaactcttc
     2161 ggcggccagt ttaatttcga tgaagggact cctcccacca acttcgatac ttttccagca
     2221 gcaataatga cggtgtttca gatcctgacg ggcgaagact ggaacgaggt catgtacgac
     2281 gggatcaagt ctcagggggg cgtgcagggc ggcatggtgt tctccatcta tttcattgta
     2341 ctgacgctct ttgggaacta caccctcctg aatgtgttct tggccatcgc tgtggacaat
     2401 ctggccaacg cccaggagct caccaaggac gagcaagagg aagaagaagc agcgaaccag
     2461 aaacttgccc tacagaaagc caaggaggtg gcagaagtga gtcctctgtc cgcggccaac
     2521 atgtctatag ctgtgaaaga gcaacagaag aatcaaaagc cagccaagtc cgtgtgggag
     2581 cagcggacca gtgagatgcg aaagcagaac ttgctggcca gccgggaggc cctgtataac
     2641 gaaatggacc cggacgagcg ctggaaggct gcctacacgc ggcacctgcg gccagacatg
     2701 aagacgcact tggaccggcc gctggtggtg gacccgcagg agaaccgcaa caacaacacc
     2761 aacaagagcc gggcggccga gcccaccgtg gaccagcgcc tcggccagca gcgcgccgag
     2821 gacttcctca ggaaacaggc ccgctaccac gatcgggccc gggaccccag cggctcggcg
     2881 ggcctggacg cacggaggcc ctgggcggga agccaggagg ccgagctgag ccgggaggga
     2941 ccctacggcc gcgagtcgga ccaccacgcc cgggagggca gcctggagca acccgggttc
     3001 tgggagggcg aggccgagcg aggcaaggcc ggggaccccc accggaggca cgtgcaccgg
     3061 caggggggca gcagggagag ccgcagcggg tccccgcgca cgggcgcgga cggggagcat
     3121 cgacgtcatc gcgcgcaccg caggcccggg gaggagggtc cggaggacaa ggcggagcgg
     3181 agggcgcggc accgcgaggg cagccggccg gcccggggcg gcgagggcga gggcgagggc
     3241 cccgacgggg gcgagcgcag gagaaggcac cggcatggcg ctccagccac gtacgagggg
     3301 gacgcgcgga gggaggacaa ggagcggagg catcggagga ggaaagagaa ccagggctcc
     3361 ggggtccctg tgtcgggccc caacctgtca accacccggc caatccagca ggacctgggc
     3421 cgccaagacc cacccctggc agaggatatt gacaacatga agaacaacaa gctggccacc
     3481 gcggagtcgg ccgctcccca cggcagcctt ggccacgccg gcctgcccca gagcccagcc
     3541 aagatgggaa acagcaccga ccccggcccc atgctggcca tccctgccat ggccaccaac
     3601 ccccagaacg ccgccagccg ccggacgccc aacaacccgg ggaacccatc caatcccggc
     3661 ccccccaaga cccccgagaa tagccttatc gtcaccaacc ccagcggcac ccagaccaat
     3721 tcagctaaga ctgccaggaa acccgaccac accacagtgg acatcccccc agcctgccca
     3781 ccccccctca accacaccgt cgtacaagtg aacaaaaacg ccaacccaga cccactgcca
     3841 aaaaaagagg aagagaagaa ggaggaggag gaagacgacc gtggggaaga cggccctaag
     3901 ccaatgcctc cctatagctc catgttcatc ctgtccacga ccaaccccct tcgccgcctg
     3961 tgccattaca tcctgaacct gcgctacttt gagatgtgca tcctcatggt cattgccatg
     4021 agcagcatcg ccctggccgc cgaggaccct gtgcagccca acgcacctcg gaacaacgtg
     4081 ctgcgatact ttgactacgt ttttacaggc gtctttacct ttgagatggt gatcaagatg
     4141 attgacctgg ggctcgtcct gcatcagggt gcctacttcc gtgacctctg gaatattctc
     4201 gacttcatag tggtcagtgg ggccctggta gcctttgcct tcactggcaa tagcaaagga
     4261 aaagacatca acacgattaa atccctccga gtcctccggg tgctacgacc tcttaaaacc
     4321 atcaagcggc tgccaaagct caaggctgtg tttgactgtg tggtgaactc acttaaaaac
     4381 gtcttcaaca tcctcatcgt ctacatgcta ttcatgttca tcttcgccgt ggtggctgtg
     4441 cagctcttca aggggaaatt cttccactgc actgacgagt ccaaagagtt tgagaaagat
     4501 tgtcgaggca aatacctcct ctacgagaag aatgaggtga aggcgcgaga ccgggagtgg
     4561 aagaagtatg aattccatta cgacaatgtg ctgtgggctc tgctgaccct cttcaccgtg
     4621 tccacgggag aaggctggcc acaggtcctc aagcattcgg tggacgccac ctttgagaac
     4681 cagggcccca gccccgggta ccgcatggag atgtccattt tctacgtcgt ctactttgtg
     4741 gtgttcccct tcttctttgt caatatcttt gtggccttga tcatcatcac cttccaggag
     4801 caaggggaca agatgatgga ggaatacagc ctggagaaaa atgagagggc ctgcattgat
     4861 ttcgccatca gcgccaagcc gctgacccga cacatgccgc agaacaagca gagcttccag
     4921 taccgcatgt ggcagttcgt ggtgtctccg cctttcgagt acacgatcat ggccatgatc
     4981 gccctcaaca ccatcgtgct tatgatgaag ttctatgggg cttctgttgc ttatgaaaat
     5041 gccctgcggg tgttcaacat cgtcttcacc tccctcttct ctctggaatg tgtgctgaaa
     5101 gtcatggctt ttgggattct gaattatttc cgcgatgcct ggaacatctt cgactttgtg
     5161 actgttctgg gcagcatcac cgatatcctc gtgactgagt ttgggaataa cttcatcaac
     5221 ctgagctttc tccgcctctt ccgagctgcc cggctcatca aacttctccg tcagggttac
     5281 accatccgca ttcttctctg gacctttgtg cagtccttca aggccctgcc ttatgtctgt
     5341 ctgctgatcg ccatgctctt cttcatctat gccatcattg ggatgcaggt gtttggtaac
     5401 attggcatcg acgtggagga cgaggacagt gatgaagatg agttccaaat cactgagcac
     5461 aataacttcc ggaccttctt ccaggccctc atgcttctct tccggagtgc caccggggaa
     5521 gcttggcaca acatcatgct ttcctgcctc agcgggaaac cgtgtgataa gaactctggc
     5581 atcctgactc gagagtgtgg caatgaattt gcttattttt actttgtttc cttcatcttc
     5641 ctctgctcgt ttctgatgct gaatctcttt gtcgccgtca tcatggacaa ctttgagtac
     5701 ctcacccgag actcctccat cctgggcccc caccacctgg atgagtacgt gcgtgtctgg
     5761 gccgagtatg accccgcagc ttggggccgc atgccttacc tggacatgta tcagatgctg
     5821 agacacatgt ctccgcccct gggtctgggg aagaagtgtc cggccagagt ggcttacaag
     5881 cggcttctgc ggatggacct gcccgtcgca gatgacaaca ccgtccactt caattccacc
     5941 ctcatggctc tgatccgcac agccctggac atcaagattg ccaagggagg agccgacaaa
     6001 cagcagatgg acgctgagct gcggaaggag atgatggcga tttggcccaa tctgtcccag
     6061 aagacgctag acctgctggt cacacctcac aagtccacgg acctcaccgt ggggaagatc
     6121 tacgcagcca tgatgatcat ggagtactac cggcagagca aggccaagaa gctgcaggcc
     6181 atgcgcgagg agcaggaccg gacacccctc atgttccagc gcatggagcc cccgtcccca
     6241 acgcaggaag ggggacctgg ccagaacgcc ctcccctcca cccagctgga cccaggagga
     6301 gccctgatgg ctcacgaaag cggcctcaag gagagcccgt cctgggtgac ccagcgtgcc
     6361 caggagatgt tccagaagac gggcacatgg agtccggaac aaggcccccc taccgacatg
     6421 cccaacagcc agcctaactc tcagtccgtg gagatgcgag agatgggcag agatggctac
     6481 tccgacagcg agcactacct ccccatggaa ggccagggcc gggctgcctc catgccccgc
     6541 ctccctgcag agaaccagag gagaaggggc cggccacgtg ggaataacct cagtaccatc
     6601 tcagacacca gccccatgaa gcgttcagcc tccgtgctgg gccccaaggc ccgacgcctg
     6661 gacgattact cgctggagcg ggtcccgccc gaggagaacc agcggcacca ccagcggcgc
     6721 cgcgaccgca gccaccgcgc ctctgagcgc tccctgggcc gctacaccga tgtggacaca
     6781 ggcttgggga cagacctgag catgaccacc caatccgggg acctgccgtc gaaggagcgg
     6841 gaccaggagc ggggccggcc caaggatcgg aagcatcgac agcaccacca ccaccaccac
     6901 caccaccacc atcccccgcc ccccgacaag gaccgctatg cccaggaacg gccggaccac
     6961 ggccgggcac gggctcggga ccagcgctgg tcccgctcgc ccagcgaggg ccgagagcac
     7021 atggcgcacc ggcagggcag tagttccgta agtggaagcc cagccccctc aacatctggt
     7081 accagcactc cgcggcgggg ccgccgccag ctcccccaga ccccctccac cccccggcca
     7141 cacgtgtcct attcccctgt gatccgtaag gccggcggct cggggccccc gcagcagcag
     7201 cagcagcagc agcagcagca gcagcagcag gcggtggcca ggccgggccg ggcggccacc
     7261 agcggccctc ggaggtaccc aggccccacg gccgagcctc tggccggaga tcggccgccc
     7321 acggggggcc acagcagcgg ccgctcgccc aggatggaga ggcgggtccc aggcccggcc
     7381 cggagcgagt cccccagggc ctgtcgacac ggcggggccc ggtggccggc atctggcccg
     7441 cacgtgtccg aggggccccc gggtccccgg caccatggct actaccgggg ctccgactac
     7501 gacgaggccg atggcccggg cagcgggggc ggcgaggagg ccatggccgg ggcctacgac
     7561 gcgccacccc ccgtacgaca cgcgtcctcg ggcgccaccg ggcgctcgcc caggactccc
     7621 cgggcctcgg gcccggcctg cgcctcgcct tctcggcacg gccggcgact ccccaacggc
     7681 tactacccgg cgcacggact ggccaggccc cgcgggccgg gctccaggaa gggcctgcac
     7741 gaaccctaca gcgagagtga cgatgattgg tgctaagccc gggcgaggtg gcgcccgccc
     7801 ggccccccac gcaccccacg cacacacccc acccgaggag ccgcgcagag gccgcggggg
     7861 cccagcacag agggcccggg agagggccag ccgggagacc ccagactctg gagaggccag
     7921 ggctgggcca caagggtgtc ccgcagagac cctcggccaa aagagaccct cctgggcagc
     7981 cacggcgccc cccaaccagc cccgatcccc ccacccacga caggggctct cgggtgggag
     8041 gcagggagca gacaaaccac acagccaagg gatttgaatt aactcagcca tttttggaga
     8101 actttgggga acatgaaaaa aaaaaaaaaa aaaaaaaaaa aaaacatttt taaaagaaaa
     8161 aacggggaga aaaaaatagc ttctattgat gagttttatc atctcaattg aatctttcct
     8221 ttccctgatg aagacagctg gtggccgagt gcggcaaaga agccagaagg aaccagaatc
     8281 ccagtgccct acacccacca ccagacacac tcacacccac acacgttctc agacacacac
     8341 aagagtgctt gccggttata ccaaacccta ctattactgc ctgcagaaat caatttaaaa
     8401 aaataataat aacaataaac aattttaaaa aggacaaaaa aattaatgat tgagaaaaga
     8461 ggcatttttt tctgacattt ggtcctgctt gaaacaacaa aagaagaaga aaaacccacc
     8521 atcaccaccg attcctttgc ttcttttttc cttttttcct accttgtttg aaaaccgtgg
     8581 gcttgggact gtgaattatt gcatgacatt caaaaagaaa aaaaaaataa aaaaaagttg
     8641 aatcaaa
//
